"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "KCNS1"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 779990	NM_001322799.2(KCNS1):c.1571A>C (p.Gln524Pro)	KCNS1 (Q524P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769094	NM_001322799.2(KCNS1):c.1523A>G (p.Gln508Arg)	KCNS1 (Q508R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777917	NM_001322799.2(KCNS1):c.1396C>T (p.Arg466Cys)	KCNS1 (R466C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780607	NM_001322799.2(KCNS1):c.981C>T (p.Gly327=)	KCNS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	WFDC11, WFDC12 +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	ACOT8, ADA +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic

ClinVar